{
    "disease_id": "DOID:0111214",
    "recommended_name": {
        "id": "DOID:0111214",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111214",
        "name": "autosomal recessive distal hereditary motor neuronopathy 5",
        "description": "An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35."
    },
    "synonyms": [
        {
            "id": "DOID:0111214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111214",
            "name": "DSMA5",
            "description": ""
        },
        {
            "id": "DOID:0111214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111214",
            "name": "young adult-onset dHMN",
            "description": ""
        },
        {
            "id": "DOID:0111214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111214",
            "name": "autosomal recessive distal spinal muscular atrophy type 5",
            "description": ""
        },
        {
            "id": "DOID:0111214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111214",
            "name": "young adult-onset distal hereditary motor neuropathy",
            "description": ""
        },
        {
            "id": "DOID:0111214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111214",
            "name": "distal spinal muscular atrophy type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013947",
            "name": "neuronopathy, distal hereditary motor, autosomal recessive 5",
            "description": "Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared."
        },
        {
            "id": "MONDO:0013947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013947",
            "name": "DSMA5",
            "description": ""
        },
        {
            "id": "MONDO:0013947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013947",
            "name": "Young adult-onset dHMN",
            "description": ""
        },
        {
            "id": "MONDO:0013947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013947",
            "name": "autosomal recessive distal spinal muscular atrophy type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013947",
            "name": "dSMA5",
            "description": ""
        },
        {
            "id": "MONDO:0013947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013947",
            "name": "spinal muscular atrophy, distal, autosomal recessive, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013947",
            "name": "young adult-onset distal hereditary motor neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0013947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013947",
            "name": "spinal muscular atrophy, distal, autosomal recessive, 5",
            "description": ""
        },
        {
            "id": "MIM:614881",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614881",
            "name": "Neuronopathy, distal hereditary motor, autosomal recessive 5",
            "description": "Neuronopathy, distal hereditary motor, autosomal recessive 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111214"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111214",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111214",
            "categories": []
        },
        {
            "id": "MONDO:0013947",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013947",
            "categories": []
        },
        {
            "id": "MIM:614881",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614881",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QYI5-3",
            "uniprot_ac": "Q9QYI5",
            "uniprot_id": "DNJB2_MOUSE",
            "refseq_ac": "NP_001153355",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog subfamily B member 2",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily B, member 10",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily B, member 2",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ homolog subfamily B member 10",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 10",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 2",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein, DNAJ-like 1",
                    "type": "synonym"
                },
                {
                    "name": "mDj8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnajb2",
                    "type": "recommended"
                },
                {
                    "name": "2700059H22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnajb10",
                    "type": "synonym"
                },
                {
                    "name": "Dnajb2",
                    "type": "synonym"
                },
                {
                    "name": "Hsj1",
                    "type": "synonym"
                },
                {
                    "name": "mDj8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYI5-3",
            "evidence": [
                {
                    "id": "0111214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25686-3",
            "uniprot_ac": "P25686",
            "uniprot_id": "DNJB2_HUMAN",
            "refseq_ac": "NP_001034639",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog subfamily B member 2",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily B, member 2",
                    "type": "synonym"
                },
                {
                    "name": "HSJ-1",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock 40 kDa protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein J1",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ protein homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 40 kDa protein 3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein J1",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein, neuronal DNAJ-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAJB2",
                    "type": "recommended"
                },
                {
                    "name": "CMT2T",
                    "type": "synonym"
                },
                {
                    "name": "DNAJB2",
                    "type": "synonym"
                },
                {
                    "name": "DSMA5",
                    "type": "synonym"
                },
                {
                    "name": "HMNR5",
                    "type": "synonym"
                },
                {
                    "name": "HSJ-1",
                    "type": "synonym"
                },
                {
                    "name": "HSJ1",
                    "type": "synonym"
                },
                {
                    "name": "HSPF3",
                    "type": "synonym"
                }
            ],
            "record_id": "P25686-3",
            "evidence": [
                {
                    "id": "614881",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614881"
                },
                {
                    "id": "0111214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A3U5-1",
            "uniprot_ac": "A0A8I6A3U5",
            "uniprot_id": "A0A8I6A3U5_RAT",
            "refseq_ac": "NP_001386044",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily B, member 2",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ heat shock protein family (Hsp40) member B2",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnajb2",
                    "type": "recommended"
                },
                {
                    "name": "Dnajb2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A3U5-1",
            "evidence": [
                {
                    "id": "0111214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYF7-1",
            "uniprot_ac": "A8DYF7",
            "uniprot_id": "A8DYF7_DROME",
            "refseq_ac": "NP_001246364",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8448-PG",
                    "type": "synonym"
                },
                {
                    "name": "Mrj, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Mrj, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Mrj, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "mrj, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "mrj-PG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mrj",
                    "type": "recommended"
                },
                {
                    "name": "CG8448",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8448",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8448",
                    "type": "synonym"
                },
                {
                    "name": "MRJ",
                    "type": "synonym"
                },
                {
                    "name": "dMRJ",
                    "type": "synonym"
                },
                {
                    "name": "dmrj",
                    "type": "synonym"
                },
                {
                    "name": "mrjA",
                    "type": "synonym"
                },
                {
                    "name": "mrj",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYF7-1",
            "evidence": [
                {
                    "id": "0111214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111214"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111214"
}